Paralogue Annotation for CACNA1C residue 1123

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1123
Reference Amino Acid: R - Arginine
Protein Domain: TM domain 3

Paralogue Variants mapped to CACNA1C residue 1123

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	A1427S	Brugada syndrome	Medium	9	20129283, 24445991
SCN1A	A1440E	Dravet syndrome	Medium	9	23808377
SCN1A	A1440V	Autism spectrum disorder	Medium	9	26637798

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in CACNA1C.

CACNA1C	NSKFDFDNVLAAMMALFTVSTFEGWPELLY>R<SIDSHTEDKGPIYNYRVEISIFFIIYIIII	1153
CACNA1A	KYEFHYDNVLWALLTLFTVSTGEGWPQVLK>H<SVDATFENQGPSPGYRMEMSIFYVVYFVVF	1498
CACNA1B	KYDFHYDNVLWALLTLFTVSTGEGWPMVLK>H<SVDATYEEQGPSPGYRMELSIFYVVYFVVF	1404
CACNA1D	NSDFNFDNVLSAMMALFTVSTFEGWPALLY>K<AIDSNGENIGPIYNHRVEISIFFIIYIIIV	1159
CACNA1E	RHEFHYDNIIWALLTLFTVSTGEGWPQVLQ>H<SVDVTEEDRGPSRSNRMEMSIFYVVYFVVF	1410
CACNA1F	NSDFNFDNVLSAMMALFTVSTFEGWPALLY>K<AIDAYAEDHGPIYNYRVEISVFFIVYIIII	1124
CACNA1G	RHKYNFDNLGQALMSLFVLASKDGWVDIMY>D<GLDAVGVDQQPIMNHNPWMLLYFISFLLIV	1524
CACNA1H	RRKYNFDNLGQALMSLFVLSSKDGWVNIMY>D<GLDAVGVDQQPVQNHNPWMLLYFISFLLIV	1542
CACNA1I	HHKYNFDNLGQALMSLFVLASKDGWVNIMY>N<GLDAVAVDQQPVTNHNPWMLLYFISFLLIV	1418
CACNA1S	HSDFHFDNVLSAMMSLFTVSTFEGWPQLLY>K<AIDSNAEDVGPIYNNRVEMAIFFIIYIILI	1052
SCN10A	NVKVNFDNVAMGYLALLQVATFKGWMDIMY>A<AVDSREVNMQPKWEDNVYMYLYFVIFIIFG	1405
SCN11A	NQKVNFDNVGNAYLALLQVATFKGWMDIIY>A<AVDSTEKEQQPEFESNSLGYIYFVVFIIFG	1295
SCN1A	NVKVNFDNVGFGYLSLLQVATFKGWMDIMY>A<AVDSRNVELQPKYEESLYMYLYFVIFIIFG	1470
SCN2A	NVKVNFDNVGLGYLSLLQVATFKGWMDIMY>A<AVDSRNVELQPKYEDNLYMYLYFVIFIIFG	1460
SCN3A	NVKVNFDNVGAGYLALLQVATFKGWMDIMY>A<AVDSRDVKLQPVYEENLYMYLYFVIFIIFG	1455
SCN4A	NVKVNYDNVGLGYLSLLQVATFKGWMDIMY>A<AVDSREKEEQPQYEVNLYMYLYFVIFIIFG	1282
SCN5A	KVKVNFDNVGAGYLALLQVATFKGWMDIMY>A<AVDSRGYEEQPQWEYNLYMYIYFVIFIIFG	1457
SCN7A	NAKMNFDNVGNGFLSLLQVATFNGWITIMN>S<AIDSVAVNIQPHFEVNIYMYCYFINFIIFG	1180
SCN8A	NVKINFDNVGAGYLALLQVATFKGWMDIMY>A<AVDSRKPDEQPKYEDNIYMYIYFVIFIIFG	1451
SCN9A	NLKVNFDNVGLGYLSLLQVATFKGWTIIMY>A<AVDSVNVDKQPKYEYSLYMYIYFVVFIIFG	1433
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1123H	c.3368G>A	Putative Benign			SIFT: Polyphen: